Volume 75; Issue 4

American Journal of Medical Genetics

Volume 75; Issue 4

1

Jacobsen distal 11q deletion syndrome with a myelodysplastic change of hemopoietic cells

Lin, Jiuann-Huey, Hou, Jia-Woei, Teng, Ru-Jeng, Tien, Hwei-Fang, Lin, Kai-Hsin

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 489 KB

english, 1998

2

Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions

Wright, Tracy J., Clemens, Michele, Quarrell, Oliver, Altherr, Michael R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 140 KB

english, 1998

3

Wolf-Hirschhorn syndrome and a split-hand malformation

Bamshad, Michael, O'Quinn, Janis R., Carey, John C.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 162 KB

english, 1998

4

FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases

Crolla, John A., Long, Fiona, Rivera, Horacio, Dennis, Nicholas R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 296 KB

english, 1998

5

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

Crolla, John A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 87 KB

english, 1998

6

Reproduction in a patient with trisomy 8 mosaicism: Case report and literature review

Habecker-Green, Julia, Naeem, Rizwan, Goh, William, Pflueger, Solveig, Murray, Michele, Cohn, Gabriel

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 26 KB

english, 1998

7

Racial variation in incidence of trisomy 21: Survey of 57,742 Chinese deliveries

Lau, T.K., Fung, Hedy Y.M., Rogers, Michael S., Cheung, K.L.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 24 KB

english, 1998

8

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III

Hazelwood, Senator, Bernardini, Isa, Shotelersuk, Vorasuk, Tangerman, Albert, Guo, Juanru, Mudd, Harvey, Gahl, William A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 110 KB

english, 1998

9

Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect

Nye, Jeffrey S., Balkin, Nancy, Lucas, Heather, Knepper, Paul A., McLone, David G., Charrow, Joel

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 616 KB

english, 1998

10

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization

Engelen, John J.M., Loots, Wil J.G., Albrechts, Jozefa C.M., Plomp, Astrid S., van der Meer, Syb B., Vles, Johannes S.H., Hamers, Guus J.H., Geraedts, Joep P.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 483 KB

english, 1998

11

De novo complex chromosome rearrangement detected by fluorescence in situ hybridization on amniotic fluid cells

Calabrese, G., Morizio, E., Guanciali Franchi, P., Stuppia, L., Palka, G., Mingarelli, R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 165 KB

english, 1998

12

Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome

Tonoki, Hidefumi, Saitoh, Shinji, Kobayashi, Kunihiko

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 70 KB

english, 1998

13

Association between homeobox-containing geneMSX1 and the occurrence of limb deficiency

Hwang, Shih-Jen, Beaty, Terri H., McIntosh, Iain, Hefferon, Timothy, Panny, Susan R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 44 KB

english, 1998

14

Genetic counseling in Mexico

Wertz, Dorothy C.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 17 KB

english, 1998

15

Attitudes of Mexican geneticists towards prenatal diagnosis and selective abortion

Carnevale, Alessandra, Lisker, Rub�n, Villa, Antonio R., Armendares, Salvador

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 41 KB

english, 1998

16

Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

Harada, Naoki, Abe, Kyohko, Nishimura, Tomoko, Sasaki, Kiminori, Ishikawa, Mutsuo, Fujimoto, Masahiro, Matsumoto, Tadashi, Niikawa, Norio

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 142 KB

english, 1998

17

Another previously described 21 monosomy case turns out to be an unbalanced translocation

West, Barbara R., Allen, Elizabeth F.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 13 KB

english, 1998

18

Jimpymsd mouse mutation and connatal Pelizaeus-Merzbacher disease

Yamamoto, Toshiyuki, Nanba, Eiji, Zhang, Haidi, Sasaki, Masayuki, Komaki, Hirohumi, Takeshita, Kenzo

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

19

Brachmann-de Lange syndrome and congenital heart disease

Tsukahara, Masato, Okamoto, Nobuhiko, Ohashi, Hirofumi, Kuwajima, Katsuko, Kondo, Ikuko, Sugie, Hideo, Nagai, Toshiro, Naritomi, Kenji, Hasegawa, Tomoko, Fukushima, Yoshimitsu, Masuno, Mitsuo, Kuroki,

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 14 KB

english, 1998

20

Frontonasal malformation and deletion of 22q11

Kirkpatrick, Susan J., Pauli, Richard M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 80 KB

english, 1998

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